Human HOXA1 syndromes
- Synonyms
- Athabaskan brainstem dysgenesis syndrome; NAVAJO BRAINSTEM SYNDROME
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:HOXA1-related disorders are characterized by ocular motility disorder (horizontal gaze palsy with or without Duane syndrome), bilateral sensorineural deafness, cerebrovascular malformations (predominantly involving the carotid arteries), motor delay, central hypoventilation, and intellectual disability. Additional common features include congenital heart disease, facial paresis, vocal cord paresis, and swallowing dysfunction. Some individuals have seizures.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Prince Jacob
- Venkatraman Bhat
- Siddaramappa J Patil
- view full author information
Available tests
19 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of the cardiovascular system
- Internal carotid arteries, hypoplasia of
Internal carotid arteries, hypoplasia of
- MedGen UID: 383757
- Concept ID: C1855736
- Finding: Finding
Abnormality of the cardiovascular system
- Internal carotid arteries, hypoplasia of
- Abnormality of the eye
- Duane retraction syndrome
Duane retraction syndrome
- MedGen UID: 4413
- Concept ID: C0013261
- Finding: Disease or Syndrome
Abnormality of the eye
- Horizontal supranuclear gaze palsy
Horizontal supranuclear gaze palsy
- MedGen UID: 870350
- Concept ID: C4024794
- Finding: Disease or Syndrome
Abnormality of the eye
- Duane retraction syndrome
- Abnormality of the nervous system
- Delayed gross motor development
Delayed gross motor development
- MedGen UID: 332508
- Concept ID: C1837658
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Delayed gross motor development
- Abnormality of the respiratory system
- Central hypoventilation
Central hypoventilation
- MedGen UID: 812169
- Concept ID: C3805839
- Finding: Finding
Abnormality of the respiratory system
- Central hypoventilation
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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